The Post-GWAS Era: From Association to Function

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The Post-GWAS Era: From Association to Function Michael D. Gallagher, Alice S. Chen-Plotkin  The American Journal of Human Genetics  Volume 102, Issue 5, Pages 717-730 (May 2018) DOI: 10.1016/j.ajhg.2018.04.002 Copyright © 2018 American Society of Human Genetics Terms and Conditions

Figure 1 Mechanistic Understanding of Disease Risk Loci Identified by GWASs Lags Far Behind the Discovery of New SNP-Trait Associations The EBI GWAS catalog was used to determine the number of total GWASs reported from 2005 through the end of 2016, which are shown in blue. The number of post-GWAS functional studies reported each year were also identified (orange line) by (1) reviewing the titles, and in some cases, abstracts, of all research articles published in 23 relevant biomedical research journals∗, and (2) searching PubMed using the keywords “causal variant” or “functional variant.” Additional studies were identified through references from primary research or review articles found as described. ∗American Journal of Human Genetics, Cancer Cell, Cell, Cell Reports, Cell Stem Cell, eLife, Genome Biology, Genome Research, Human Molecular Genetics, Molecular Cell, Nature, Nature Biotechnology, Nature Communications, Nature Genetics, Nature Medicine, Nature Neuroscience, Nature Structural & Molecular Biology, Neuron, PLOS Genetics, PNAS, Science, Science Translational Medicine, Stem Cell Reports The American Journal of Human Genetics 2018 102, 717-730DOI: (10.1016/j.ajhg.2018.04.002) Copyright © 2018 American Society of Human Genetics Terms and Conditions